0000000000858752

AUTHOR

Dijana Plaseska-karanfilska

showing 2 related works from this author

Global change in hepatitis C virus prevalence and cascade of care between 2015 and 2020

2022

Background Since the release of the first global hepatitis elimination targets in 2016, and until the COVID-19 pandemic started in early 2020, many countries and territories were making progress toward hepatitis C virus (HCV) elimination. This study aims to evaluate HCV burden in 2020, and forecast HCV burden by 2030 given current trends. Methods This analysis includes a literature review, Delphi process, and mathematical modelling to estimate HCV prevalence (viraemic infection, defined as HCV RNA-positive cases) and the cascade of care among people of all ages (age =0 years from birth) for the period between Jan 1, 2015, and Dec 31, 2030. Epidemiological data were collected from published …

Viremia/epidemiologyGenotype DistributionHepatitis C/epidemiologyHepatologyEpidemiologyGastroenterologyInfant NewbornCOVID-19HepacivirusHepatitis ATodays Treatment ParadigmInfectionsHepatitis CFuture Disease BurdenSDG 3 - Good Health and Well-beingHCVfuture disease burden ; todays treatment paradigm ; genotype distribution ; epidemiology ; infectionsPrevalenceHumansHuman medicineViremiaPandemicsCOVID-19/epidemiologyThe Lancet Gastroenterology and Hepatology
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Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

2018

Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…

AdultPremature Stop Codonmedicine.medical_specialtyPainmedicine.disease_causeYoung AdultCongenital insensitivity to pain with anhidrosisHereditary sensory and autonomic neuropathyGeneticsmedicineHumansGenetic Predisposition to DiseaseReceptor trkAAnhidrosisGenetics (clinical)HypohidrosisMutationAdult femalebusiness.industryOssification HeterotopicGeneral MedicineEuropean populationNTRK1 Genemedicine.diseaseDermatologyFemaleArthropathy Neurogenicmedicine.symptombusinessEuropean Journal of Medical Genetics
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